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Sialidosis

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Sialidosis is not the name you expected.

Disorder Subdivisions

None

General Discussion

Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type II is usually more severe than sialidosis type I. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis is inherited as an autosomal recessive trait.

Sialidosis belongs to a group of diseases known as the lysosomal storage disorders (LSDs). Lysosomes are particles bound in membranes within cells that function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). In sialidosis patients, low levels or inactivity of the neuraminidase enzyme leads to the abnormal accumulation these compounds in the cells with unwanted consequences. Sialidosis is also classified as one of the mucolipidoses, a subgroup of the LSDs.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Website: http://www.CLIMB.org.uk

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

#218-2055 Commercial Drive

Vancouver, BC V5N 0C7

Canada

Tel: (604) 924-5130

Tel: 1-800-667-1846

Email: info@mpssociety.ca

Website: http://www.mpssociety.ca

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Hide &#038; Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Website: http://www.hideandseek.org

ISMRD

20880 Canyon View Drive

Saratoga, CA 95070

Email: info@ismrd.org

Website: http://www.ismrd.org/

International Advocate For Glycoprotein Storage Diseases

20880 Canyon View Drive

Saratoga, CA 95070

USA

Email: info@ismrd.org

Website: http://www.ismrd.org

NIH/National Institute of Diabetes, Digestive &#038; Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Website: http://www2.niddk.nih.gov/

Society for Mucopolysaccharide Diseases

MPS House

Repton Place

Buckinghamshire, HP7 9LP

United Kingdom

Tel: 8453899901

Fax: 8453899902

Email: mps@mpssociety.co.uk

Website: http://www.mpssociety.co.uk

The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

Email: info@thearc.org

Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300

France

Tel: 169754030

Fax: 160111583

Email: accueil@vml-asso.org

Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 5/28/2010Copyright 2010 National Organization for Rare Disorders, Inc.

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